2.A.49.3.3
CLC-7 or Clcn7 Cl-:H+ antiporter; provides the primary Cl- permeation pathway in the lysosome (Graves et al., 2008). Cl- provides the counter ion for acidification of the lysosomal lumen via the V-type ATPase (Mindell, 2012). It is a slowly voltage-gated 2Cl-/1H+-exchanger and requires Ostm1 for transport activity (Leisle et al., 2011). Common gating (involving both of the two subunits) underlies the slow voltage activation dependent on the C-terminal CBS domain (Ludwig et al. 2013). Lethal CLCN7-related osteopetrosis has been described (Rössler et al. 2021).
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| Accession Number: | Q86WC4 |
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| Protein Name: | Osteopetrosis-associated transmembrane protein 1 |
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| Length: | 334 |
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| Molecular Weight: | 37257.00 |
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| Species: | Homo sapiens (Human) [9606] |
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| Number of TMSs: | 2 |
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| Location1 / Topology2 / Orientation3: |
Lysosome membrane1 / Single-pass type I membrane protein2 |
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| Substrate |
chloride |
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1: MEPGPTAAQR RCSLPPWLPL GLLLWSGLAL GALPFGSSPH RVFHDLLSEQ QLLEVEDLSL
61: SLLQGGGLGP LSLPPDLPDL DPECRELLLD FANSSAELTG CLVRSARPVR LCQTCYPLFQ
121: QVVSKMDNIS RAAGNTSESQ SCARSLLMAD RMQIVVILSE FFNTTWQEAN CANCLTNNSE
181: ELSNSTVYFL NLFNHTLTCF EHNLQGNAHS LLQTKNYSEV CKNCREAYKT LSSLYSEMQK
241: MNELENKAEP GTHLCIDVED AMNITRKLWS RTFNCSVPCS DTVPVIAVSV FILFLPVVFY
301: LSSFLHSEQK KRKLILPKRL KSSTSFANIQ ENSN